Canonical Allele Identifier: CA425864961

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2911517
• ClinVar RCV Id: RCV003760501
• dbSNP Id: rs572392563
• gnomAD v4: 2-38075209-G-A
• MyVariant Identifiers: chr2:g.38302352G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075209G>A , CM000664.2:g.38075209G>A	GRCh38
NC_000002.11:g.38302352G>A , CM000664.1:g.38302352G>A	GRCh37
NC_000002.10:g.38155856G>A	NCBI36
NG_008386.2:g.5893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.180C>T	ENSP00000478839.2:p.Ile60=
ENST00000610745.5:c.180C>T MANE Select	ENSP00000478561.1:p.Ile60=
ENST00000490576.1:c.180C>T	ENSP00000478839.1:p.Ile60=
ENST00000494864.1:c.-70-3899C>T	ENSP00000479876.1:n.-70-3899C>T
ENST00000610745.4:c.180C>T	ENSP00000478561.1:p.Ile60=
ENST00000613082.1:n.375+571C>T
ENST00000614273.1:c.180C>T	ENSP00000483678.1:p.Ile60=
NM_000104.3:c.180C>T	NP_000095.2:p.Ile60=
NM_000104.4:c.180C>T MANE Select	NP_000095.2:p.Ile60=